Homozygosity for a novel INHA mutation in two male siblings with hypospadias, primary hypogonadism, and high-normal testicular volume.

Arslan Ates, Esra; Eltan, Mehmet; Sahin, Bahadir; Gurpinar Tosun, Busra; Seven Menevse, Tuba; Geckinli, Bilgen Bilge; Greenfield, Andy; Turan, Serap; Bereket, Abdullah; Guran, Tulay

Arslan Ates, Esra; Eltan, Mehmet; Sahin, Bahadir; Gurpinar Tosun, Busra; Seven Menevse, Tuba; Geckinli, Bilgen Bilge; Greenfield, Andy; Turan, Serap; Bereket, Abdullah; Guran, Tulay.

Afiliação

Arslan Ates E; Marmara University Pendik Training and Research Hospital, Genetic Diseases Diagnostic Center, Istanbul, Turkey.
Eltan M; Department of Pediatric Endocrinology and Diabetes, Marmara University, School of Medicine, Istanbul, Turkey.
Sahin B; Department of Urology, Marmara University, School of Medicine, Istanbul, Turkey.
Gurpinar Tosun B; Department of Pediatric Endocrinology and Diabetes, Marmara University, School of Medicine, Istanbul, Turkey.
Seven Menevse T; Department of Pediatric Endocrinology and Diabetes, Marmara University, School of Medicine, Istanbul, Turkey.
Geckinli BB; Marmara University Pendik Training and Research Hospital, Genetic Diseases Diagnostic Center, Istanbul, Turkey.
Greenfield A; Mammalian Genetics Unit, MRC Harwell Institute, Oxfordshire, UK.
Turan S; Department of Pediatric Endocrinology and Diabetes, Marmara University, School of Medicine, Istanbul, Turkey.
Bereket A; Department of Pediatric Endocrinology and Diabetes, Marmara University, School of Medicine, Istanbul, Turkey.
Guran T; Department of Pediatric Endocrinology and Diabetes, Marmara University, School of Medicine, Istanbul, Turkey.

Eur J Endocrinol ; 186(5): K25-K31, 2022 Mar 23.

Article em En | MEDLINE | ID: mdl-35235537

Assuntos

Hipogonadismo; Hipospadia; Inibinas/genética; Feminino; Humanos; Hipogonadismo/metabolismo; Hipospadia/genética; Hipospadia/metabolismo; Masculino; Mutação/genética; Irmãos; Testículo/metabolismo

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hipogonadismo / Hipospadia / Inibinas Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Eur J Endocrinol Assunto da revista: ENDOCRINOLOGIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Turquia

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